On Friday, September 25, we met with EMEA (the European regulatory agency) to begin dialogue about accelerating exon skipping. The Steering Committee met on Thursday to rehearse. A small group of us presented and/or analyzed each presentation. We wanted to strike the right tone, provide detailed information about exon skipping and we wanted them to understand this urgent need. At the end of the day, we were energized and ready to go!

We are all aware that both companies Prosensa and AVI are working on exons 51 (Prosensa- 44, AVI -50). What happens next? Will the next exons to be skipped take as long? What about the more rare mutations? Will every chemistry for each exon have to go through the common path of taking new drugs into the clinic? If this is the case for each individual exon, it may threaten the viability of exon skipping. And for our sons, it will take too long. They have no time to wait.

We stayed at a Hilton Hotel on the Thames River. We met at 8 AM and boarded the ferry, crossing the Thames. In fact, it seemed rather symbolic. We were entering new territory. When PPMD was organized 15 years ago, we could only dream about this day.

The meeting went very well. Francesco opened the meeting, introducing AON (exon skipping) as a potential therapy for DMD. Elizabeth Vroom presented the parent’s perspective. Two videos were shown – one of Justus at 4 years old. The video was actually a commercial – the first DMD commercial, donated by a PR firm 15 years ago and filmed on the beach in S. Africa. The second was done several months back. Justus as an adult, talking about outcomes – what would make a difference in his life today. It was striking in so many ways, more than I am able to describe in this short blog. It hit home. The impact, the need, the urgency.

Additional talks included delivery to tissue, results to date, toxicology, regulatory issues, backbone chemistry, trials with small populations and conditional approval.

I wrapped up with this:
The need is urgent.
Doing nothing increases risk for our sons.
Boys, all boys have little time. For the young, we need to save what they have. For the adolescent, we need to protect/preserve what they are losing and for the young adults, we need to hold on and work to restore what is lost in order to improve their quality of life.
We recognize that laws (regulatory and otherwise) are made to protect the masses, but in certain cases, in emergencies (for instance) laws are suspended. The example Elizabeth described was that of an ambulance. Speeding limits are designed to protect all drivers. In event of an emergency, the ambulance is granted permission to ignore the laws in order to protect the individual(s), help with the emergency.
In our lives, DMD is the emergency. Regulatory agencies need to consider what ‘sirens, sounds, lights’ – modifications can/should be deveoped to expedite AON as a potential therapy.

Skipping exon 51 serves only 13% of the boys with Duchenne.
Skipping exon 44 served only 6% of the boys.
Skipping exon 50 serves only 4% of the boys.
Exon skipping has the potential to help approximately 85% of all boys, but to do that in a timely way, we need to expedite the path.

The EMEA was open, interested and willing to consider how to move forward. They ‘got it’. Elizabeth McNeil, MD (orphan products/FDA) was present as well. I am certain she will help us deliver the message in the US.

Progress! We indeed crossed the river.

Ryan has posted the briefing document. We are making small revisions and the final document will be posted.

Download Briefing Document:
Muntoni EMEA introduction.pdf


Download image:
dystrophin exons EN.pdf

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Comment by Gyan Deep Singh on October 12, 2009 at 11:20am
And please dont bother to answer this now. I know u are busy in ur daughter's marriage ... Wish them a happy married life
Comment by Gyan Deep Singh on October 12, 2009 at 11:18am
Hi Pat Thanks for the update. What is the plan for exon 44 skipping trials? I thoght things should move faster once exon 51 skipping drug's efficacy is proved and FDA clearance for other exons should be easier? What's the realistic timeline we are looking for anyway?
Comment by maxine Strydom on October 12, 2009 at 4:42am
Pat I am so proud to be associated with you and all the amazing people that have pulled together to get this a step further. I can just pray it happens in Jarryds lifetime and thank you from the bottom of my heart.
Comment by Erin on October 6, 2009 at 11:48pm
Pat, you are amazing. We wish Kris and Jenny the best.

Staff
Comment by Pat Furlong on October 5, 2009 at 11:26pm
Thank you all very much. We are thrilled for Jenny. Her husband Kris is wonderful and loves her. We cannot ask for more. Like you, all celebrations are bittersweet. We will walk with Jenny, sending her off on this new life with Kris, wishing Christopher and Patrick could be with us and forever grateful for the time we were given with our sons. I may be off line for a few days. Thank you all for your kindness and good wishes.
Comment by Ana Vaish on October 5, 2009 at 10:53pm
CONGRATS !!!!!
Comment by cheryl cliff on October 5, 2009 at 1:14pm
Thanks Pat, Please don't go to any trouble digging for the info, it certainly can wait. I appreciate your doing this.

and CONGRATULATIONS on your daughter's wedding!! I hope her day is beautiful for you both!!

Staff
Comment by Pat Furlong on October 5, 2009 at 1:03pm
There are two groups actually and to be honest, I have to get back to the proposals. We are working with Kyle Brown (DuchenneConnect, research warehouse) and he is beta testing the phone technology. This week my daughter Jenny is getting married, so I will not able to get back to Kyle for an update, but will do next week.
Comment by Julie Hathaway on October 5, 2009 at 12:58pm
Pat,

Words can't express how blessed the DMD community is to have you in our lives! Thank you for your selfless service and dedication. We are all so grateful!
Comment by cheryl cliff on October 4, 2009 at 9:14pm
Hi Pat,

Could you expand on the "group in California" who is working with I-phones...specifically who is it?

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